CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
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DOI: 10.1038/s41431-020-0616-x
Abstract: From 1999 to date, 50 affecting function variants have been identified and associated to HHH syndrome [1–5]. As it is not available in the literature a complete up-to-date list of disease-causing variants for SLC25A15 gene,… read more here.
Keywords: cugc hyperornithinemia; hhh syndrome; homocitrullinuria hhh; hyperammonemia homocitrullinuria ... See more keywords